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Showing posts from May, 2025

Adrenoleukodystrophy

Adrenoleukodystrophy Overview Adrenoleukodystrophy (uh-dree-noh-loo-koh-DIS-truh-fee) is a type of hereditary (genetic) condition that damages the membrane (myelin sheath) that insulates nerve cells in your brain. In adrenoleukodystrophy (ALD), your body can't break down very long-chain fatty acids (VLCFAs), causing saturated VLCFAs to build up in your brain, nervous system and adrenal gland. The most common type of ALD is X-linked ALD, which is caused by a genetic defect on the X chromosome. X-linked ALD affects males more severely than females, who carry the disease. Forms of X-linked ALD include: Childhood-onset ALD. This form of X-linked ALD usually occurs between ages 4 and 10. The white matter of the brain is progressively damaged (leukodystrophy), and symptoms worsen over time. If not diagnosed early, childhood-onset ALD may lead to death within five to 10 years. Addison's disease. Hormone-producing glands (adrenal glands) often fail to produce enough steroids (adrenal ...

Acute inflammatory demyelinating polyneuropathy (AIDP)

Acute inflammatory demyelinating polyneuropathy (AIDP) Overview Acute inflammatory demyelinating polyneuropathy (AIDP), also known as polyradiculoneuropathy, is the most common form of Guillain-Barré Syndrome (GBS). It's an autoimmune disorder where the body's immune system attacks the peripheral nerves, leading to inflammation and damage to the myelin sheath. This damage results in the rapid onset of muscle weakness and sensory loss in the limbs Guillain-Barré syndrome (GBS) is also called acute inflammatory demyelinating polyradiculoneuropathy (AIDP). It's a neurological disorder in which the body's immune system attacks the peripheral nervous system. This is the part of the nervous system outside the brain and spinal cord. The onset of GBS can be quite sudden and unexpected. It needs immediate hospitalization. It can develop over a few days. Or it may take up to several weeks with the greatest weakness occurring within the first couple of weeks after symptoms appear....

Acromesomelic Dysplasia

Acromesomelic Dysplasia Overview Acromesomelic dysplasia is an extremely rare, inherited, progressive skeletal disorder that results in a particular form of short stature known as short-limb dwarfism. The disorder is characterized by acromelia and mesomelia. Mesomelia describes the shortening of the bones of the forearms and lower legs relative to the upper parts of those limbs. Acromelia is the shortening of the bones of the hands and feet. Thus, the short stature of affected individuals is the result of unusually short forearms and abnormal shortening of bones of the lower legs. The very short hands, fingers, feet, and toes are characteristic. These findings are apparent during the first years of life. Signs & Symptoms Acromesomelic dysplasia (AMD) is characterized by inhibition of growth of certain long bones (i.e. bones of the forearms and lower legs). As a result, affected individuals exhibit unusually short forearms and lower legs and short stature (short-limbed dwarfism). Th...

Chorea-acanthocytosis

Chorea-acanthocytosis Definition Chorea-acanthocytosis (ChAc) is a very rare, hereditary neurodegenerative disorder. The characteristic features of the condition are problems with movement and star-shaped red blood cells. The condition occurs due to a genetic alteration that affects a protein known as chorein. The variation causes this protein to be much smaller and nonfunctional. However, researchers are currently unsure how this genetic change causes the symptoms of ChAc. At present, there is no cure for ChAc, but many treatment options are available to help relieve symptoms. ChAc is a type of Trusted Source neuroacanthocytosis. This term refers to a group of conditions that cause movement problems and star-shaped red blood cells. ChAc is a rare condition. Evidence suggests that only 500 to 1,000 people worldwide have the condition. What is chorea? Chorea refers to the specific type of jerking, twitching, or dance-like movements that occur in people with ChAc. Health experts define c...

Slapped cheek syndrome

Slapped cheek syndrome Overview Parvovirus infection is a common and highly contagious childhood illness. It's sometimes called slapped-cheek disease because of the distinctive face rash that develops. Parvovirus infection has also been known as fifth disease because, historically, it was fifth in a list of common childhood illnesses characterized by a rash In most children, parvovirus infection is mild and needs little treatment. But in some adults, the infection can be serious. Parvovirus infection in some pregnant women can lead to serious health problems for the fetus. The infection is also more serious for people with some kinds of anemia or who have a compromised immune system. Symptoms Most people with parvovirus infection have no signs or symptoms. When symptoms do appear, they vary greatly depending on how old you are when you get the disease. Parvovirus symptoms in children Early signs and symptoms of parvovirus infection in children may include: Fever Upset stomach Heada...

Photosensitivity

Photosensitivity Overview Photosensitivity is your skin reacting negatively to sunlight or other sources of ultraviolet (UV) radiation. The most common reaction is an itchy, painful and swollen rash. This forms on areas of your skin that have sun exposure. In some cases, these patches will be so well defined that they follow the outline of sleeves, pant legs or your hair. Photosensitivity isn’t the same as a sunburn. While everyone should limit sun exposure and use sunscreen, photosensitivity reactions may happen within minutes of UV exposure. If you have symptoms after very little sun exposure or feel like you get reactions that are more severe than usual from a limited amount of time outdoors, talk to a healthcare provider. Treatment options are available. Signs and symptoms of photosensitivity You may experience a patch of skin with the following characteristics: Bumps (skin eruptions or multiple bumps in a group) Itchy skin Raised or swollen skin Scaling or flaking Skin discolorati...

Sinusitis

Sinusitis Overview Sinusitis is an inflammation, or swelling, of the tissue lining your sinuses. Sinuses are structures inside your face that are normally filled with air. Bacterial infections, viral infections and allergies can irritate them, causing them to get blocked and filled with fluid. This can cause pressure and pain in your face, nasal congestion (a stuffy nose) and other symptoms. Sinusitis is also sometimes called rhinosinusitis. Types of sinusitis We describe types of sinusitis based on how long it’s been going on (acute, subacute, chronic or recurrent) and what’s causing it (bacteria, virus or fungus). Acute, subacute, chronic and recurrent sinusitis Acute sinusitis symptoms (nasal congestion, drainage, facial pain/pressure and decreased sense of smell) last less than four weeks. It’s usually caused by viruses like the common cold. Subacute sinusitis symptoms last four to 12 weeks. Chronic sinusitis symptoms last at least 12 weeks. Bacteria are usually the cause. Recurre...

Scarlet fever

Scarlet fever Overview Scarlet fever is a bacterial illness that develops in some people who have strep throat. Also known as scarlatina, scarlet fever features a bright red rash that covers most of the body. Scarlet fever almost always includes a sore throat and a high fever. Scarlet fever is most common in children 5 to 15 years of age. Although scarlet fever was once considered a serious childhood illness, antibiotic treatments have made it less threatening. Still, if left untreated, scarlet fever can result in more-serious conditions that affect the heart, kidneys and other parts of the body. Symptoms The signs and symptoms that give scarlet fever its name include: Red rash. The rash looks like a sunburn and feels like sandpaper. It typically begins on the face or neck and spreads to the trunk, arms and legs. Pushing on the reddened skin makes it turn pale. Red lines. The folds of skin around the groin, armpits, elbows, knees and neck usually become a deeper red than the other ar...